| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.66529055G>A | CA343307 | TK2 | c.220C>T (p.Arg74Trp) c.334C>T (p.Arg112Trp) c.295C>T (p.Arg99Trp) c.332C>T c.97C>T (p.Arg33Trp) c.388C>T (p.Arg130Trp) c.*246C>T (n.*246C>T) c.313C>T (p.Arg105Trp) c.33-11178C>T c.90+2325C>T (n.90+2325C>T) c.67C>T (p.Arg23Trp) c.278C>T (n.278C>T) c.460C>T (p.Arg154Trp) c.514C>T (p.Arg172Trp) c.282C>T c.241C>T (p.Arg81Trp) n.1667C>T n.1377C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.66529055G= | CA2228911901 | TK2 | c.220C= (p.Arg74=) c.334C= (p.Arg112=) c.295C= (p.Arg99=) c.332C= c.97C= (p.Arg33=) c.388C= (p.Arg130=) c.*246C= (n.*246C=) c.313C= (p.Arg105=) c.33-11178C= c.90+2325C= (n.90+2325C=) c.67C= (p.Arg23=) c.278C= (n.278C=) c.460C= (p.Arg154=) c.514C= (p.Arg172=) c.282C= c.241C= (p.Arg81=) n.1667C= n.1377C= | dbSNP |